Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ERFL_chr19_41902704_41933449	41914541	CGTCTTTC others(140): Show CGTCTTTCCCTCCCCTTCCACCATCTCTGTCTCCGTCTCTCCCTCCCTTT CCACCATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTGTCTCT CCCTCCCTTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCATCTCT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02809.hp1 HG06807.hp2 HG02647.hp1 HG02809.hp1 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0112 a0001c0002t0002g0114 a0001c0002t0002g0134 a0001c0002t0002g0112 a0001c0002t0002g0114 a0001c0002t0002g0134	3	330	0.0091	-147	c.-13 others(17): Show c.-13-1756_-13-1610del		ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5						chr19	TogoVar
ERFL_chr19_41902704_41933449	41914546	TTCCCTCC others(140): Show TTCCCTCCCCTTCCACCATCTCTGTCTCCGTCTCTCCCTCCCTTTCCACC ATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTCTGTCTCTCCCTC CCTTTCCACCATCTCTGTCTCTCCCTCCCCTTCCACCATCTCTGTCTC	T T	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0268 a0001c0001t0003g0268	1	330	0.0030	-147	c.-13 others(17): Show c.-13-1761_-13-1615del		ERFL	ENSG00000268041.3	transcript	ENST00000597630.3	protein_coding	1/5						chr19	TogoVar
ERMARD_chr6_169746622_169786600	169782186	ACCCTCTC others(140): Show ACCCTCTCCGAGTGGTCGGTCTGAGTCTCAGTCTGCAGTCTTCTGATGTA CCCTTTCCGAGTGGTCGGTGTGAGTCTCAGTCTGCAGTCTTCTGATGTAC CCTTTCCGAGTGGTCGGTGTGAGTCTCACTCTGCAGTCTTCTGATTTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp2 HG00609.hp1 HG00621.hp2 others(79): Show HG00558.hp2 HG00609.hp1 HG00621.hp2 HG00735.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01257.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01884.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG02004.hp2 HG02055.hp2 HG02071.hp1 HG02132.hp2 HG02145.hp2 HG02165.hp2 HG02273.hp2 HG02559.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02976.hp1 HG03098.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03516.hp2 HG03669.hp2 HG03704.hp2 HG04184.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18944.hp2 NA18945.hp1 NA18949.hp1 NA18956.hp1 NA18957.hp1 NA18961.hp2 NA18970.hp2 NA18978.hp2 NA18979.hp2 NA18987.hp1 NA18993.hp2 NA18999.hp2 NA19001.hp2 NA19003.hp2 NA19043.hp2 NA19056.hp2 NA19066.hp2 NA19068.hp1 NA19072.hp1 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp2 NA19090.hp1 NA19091.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0008 a0009 a0010 a0012	a0001c0001 a0002c0002 a0002c0003 others(9): Show a0001c0001 a0002c0002 a0002c0003 a0003c0004 a0003c0012 a0003c0020 a0004c0008 a0006c0010 a0008c0021 a0009c0016 a0010c0022 a0012c0023	a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 others(9): Show a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 a0003c0004t0001 a0003c0012t0001 a0003c0020t0001 a0004c0008t0001 a0006c0010t0001 a0008c0021t0001 a0009c0016t0001 a0010c0022t0001 a0012c0023t0001	a0001c0001t0001g0105 a0001c0001t0001g0106 a0002c0002t0001g0147 others(38): Show a0001c0001t0001g0105 a0001c0001t0001g0106 a0002c0002t0001g0147 a0002c0003t0001g0006 a0002c0003t0001g0013 a0002c0003t0001g0025 a0002c0003t0001g0039 a0002c0003t0001g0041 a0002c0003t0001g0109 a0002c0003t0001g0110 a0002c0003t0001g0111 a0002c0003t0001g0113 a0002c0003t0001g0114 a0002c0003t0001g0115 a0002c0003t0001g0116 a0002c0003t0001g0151 a0003c0004t0001g0004 a0003c0004t0001g0008 a0003c0004t0001g0020 a0003c0004t0001g0049 a0003c0004t0001g0050 a0003c0004t0001g0155 a0003c0004t0001g0157 a0003c0004t0001g0158 a0003c0004t0001g0159 a0003c0004t0001g0160 a0003c0004t0001g0161 a0003c0004t0001g0162 a0003c0004t0001g0167 a0003c0004t0001g0168 a0003c0004t0001g0171 a0003c0012t0001g0169 a0003c0012t0001g0170 a0003c0020t0001g0154 a0004c0008t0001g0006 a0004c0008t0001g0112 a0006c0010t0001g0008 a0008c0021t0001g0152 a0009c0016t0001g0040 a0010c0022t0001g0156 a0012c0023t0001g0040	82	379	0.2164	-147	c.67 others(9): Show c.674_*820del		ERMARD	ENSG00000130023.16	transcript	ENST00000366773.8	protein_coding					587		chr6	TogoVar
ESYT2_chr7_158725997_158834509	158796896	GGCCTCCC others(140): Show GGCCTCCCGACAGAGACGGGAAAAGGCACCACGGCTGGAGGCAGAGCCTG AGTGACAGAGACAGGAAGGGGCACCACAGGCGAGAGGGCAGCAGGACAGC CTCCCGACAGACGGGAAAGGGCACTGCAGGCGAGAGGGCAGCAGGACA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(301): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18972.hp1 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0006 a0001c0007 others(16): Show a0001c0001 a0001c0006 a0001c0007 a0001c0011 a0001c0014 a0001c0024 a0002c0002 a0002c0010 a0002c0013 a0002c0021 a0003c0003 a0003c0016 a0003c0017 a0004c0005 a0004c0018 a0005c0012 a0006c0026 a0007c0025 a0008c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(43): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0020 a0001c0001t0024 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0031 a0001c0001t0043 a0001c0006t0001 a0001c0006t0009 a0001c0006t0011 a0001c0007t0001 a0001c0007t0036 a0001c0011t0001 a0001c0014t0015 a0001c0024t0001 a0002c0002t0002 a0002c0002t0035 a0002c0002t0038 a0002c0002t0040 a0002c0002t0042 a0002c0010t0002 a0002c0010t0041 a0002c0013t0002 a0002c0021t0002 a0003c0003t0004 a0003c0003t0005 a0003c0003t0007 a0003c0003t0012 a0003c0003t0019 a0003c0003t0021 a0003c0003t0023 a0003c0003t0026 a0003c0016t0004 a0003c0017t0002 a0004c0005t0001 a0004c0018t0001 a0005c0012t0001 a0006c0026t0002 a0007c0025t0001 a0008c0015t0004	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(299): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0195 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0299 a0001c0001t0001g0318 a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0002g0001 a0001c0001t0002g0052 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0131 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0010g0043 a0001c0001t0010g0045 a0001c0001t0010g0047 a0001c0001t0013g0114 a0001c0001t0013g0134 a0001c0001t0014g0186 a0001c0001t0014g0187 a0001c0001t0017g0192 a0001c0001t0017g0193 a0001c0001t0020g0150 a0001c0001t0024g0112 a0001c0001t0027g0064 a0001c0001t0028g0095 a0001c0001t0029g0094 a0001c0001t0031g0019 a0001c0001t0043g0129 a0001c0006t0001g0138 a0001c0006t0009g0190 a0001c0006t0011g0188 a0001c0006t0011g0189 a0001c0006t0011g0191 a0001c0007t0001g0029 a0001c0007t0001g0035 a0001c0007t0001g0175 a0001c0007t0001g0176 a0001c0007t0036g0032 a0001c0011t0001g0102 a0001c0011t0001g0139 a0001c0011t0001g0140 a0001c0014t0015g0173 a0001c0014t0015g0174 a0001c0024t0001g0326 a0002c0002t0002g0037 a0002c0002t0002g0227 a0002c0002t0002g0229 a0002c0002t0002g0230 a0002c0002t0002g0231 a0002c0002t0002g0234 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0238 a0002c0002t0002g0239 a0002c0002t0002g0240 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0243 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0247 a0002c0002t0002g0249 a0002c0002t0002g0250 a0002c0002t0002g0251 a0002c0002t0002g0252 a0002c0002t0002g0253 a0002c0002t0002g0254 a0002c0002t0002g0256 a0002c0002t0002g0257 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0264 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0276 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0280 a0002c0002t0002g0281 a0002c0002t0002g0284 a0002c0002t0002g0285 a0002c0002t0002g0287 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0290 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0002g0294 a0002c0002t0002g0295 a0002c0002t0002g0296 a0002c0002t0002g0297 a0002c0002t0002g0298 a0002c0002t0002g0300 a0002c0002t0002g0301 a0002c0002t0002g0302 a0002c0002t0002g0303 a0002c0002t0002g0304 a0002c0002t0002g0306 a0002c0002t0002g0307 a0002c0002t0002g0308 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0311 a0002c0002t0002g0312 a0002c0002t0002g0314 a0002c0002t0002g0316 a0002c0002t0002g0317 a0002c0002t0002g0319 a0002c0002t0002g0320 a0002c0002t0002g0365 a0002c0002t0035g0313 a0002c0002t0038g0315 a0002c0002t0040g0255 a0002c0002t0042g0027 a0002c0010t0002g0232 a0002c0010t0002g0233 a0002c0010t0041g0228 a0002c0013t0002g0261 a0002c0013t0002g0293 a0002c0021t0002g0305 a0003c0003t0004g0015 a0003c0003t0004g0016 a0003c0003t0004g0017 a0003c0003t0004g0018 a0003c0003t0004g0332 a0003c0003t0004g0333 a0003c0003t0004g0334 a0003c0003t0004g0335 a0003c0003t0004g0336 a0003c0003t0004g0338 a0003c0003t0004g0339 a0003c0003t0004g0340 a0003c0003t0004g0341 a0003c0003t0004g0343 a0003c0003t0004g0344 a0003c0003t0004g0345 a0003c0003t0004g0346 a0003c0003t0004g0347 a0003c0003t0005g0248 a0003c0003t0005g0286 a0003c0003t0005g0323 a0003c0003t0005g0359 a0003c0003t0005g0360 a0003c0003t0005g0361 a0003c0003t0007g0325 a0003c0003t0007g0327 a0003c0003t0007g0329 a0003c0003t0007g0337 a0003c0003t0012g0321 a0003c0003t0019g0004 a0003c0003t0021g0331 a0003c0003t0023g0330 a0003c0003t0026g0358 a0003c0016t0004g0078 a0003c0017t0002g0322 a0004c0005t0001g0324 a0004c0005t0001g0328 a0004c0005t0001g0348 a0004c0005t0001g0350 a0004c0005t0001g0351 a0004c0005t0001g0352 a0004c0005t0001g0353 a0004c0005t0001g0354 a0004c0005t0001g0355 a0004c0005t0001g0356 a0004c0005t0001g0357 a0004c0005t0001g0362 a0004c0005t0001g0363 a0004c0005t0001g0364 a0004c0018t0001g0349 a0005c0012t0001g0005 a0005c0012t0001g0006 a0006c0026t0002g0246 a0007c0025t0001g0041 a0008c0015t0004g0342	304	370	0.8216	-147	c.507 others(16): Show c.507+899_507+1045del		ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding	3/22						chr7	TogoVar
ETHE1_chr19_43501719_43532201	43507088	GACCCCCA others(140): Show GACCCCCAGCCCCTCTTCCCTCAGACCCAGGAGCCCAGACCCCCAGCCCC TCCTCCCTCAGACCCAGGAGTCCAGTCCCCCAGCCCTTCCTTCCTCAGAC CCAGGAGTCCAGTCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCA	G G	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0000 a0000	a0000c0004 a0000c0004	a0000c0004t0003 a0000c0004t0003	a0000c0004t0003g0235 a0000c0004t0003g0235	1	408	0.0025	-147	c.713 others(15): Show c.713-333_713-187del		ETHE1	ENSG00000105755.8	transcript	ENST00000292147.7	protein_coding	6/6						chr19	TogoVar
FAM171A1_chr10_15206643_15376289	15229684	CCATCACC others(140): Show CCATCACCACCATCACCATCATCATCATCACCACCATCACCATCATCACC ATCACCCCCATCACCATCATCACCATCACCACCATCACCATCATCACCAT CACCACCATCACCATCATCACCATCACCACCACCATCACCATCATCAT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	303	0.0033	-147	c.755 others(17): Show c.755-8771_755-8625del		FAM171A1	ENSG00000148468.17	transcript	ENST00000378116.9	protein_coding	5/7						chr10	TogoVar
FAM171A1_chr10_15206643_15376289	15229740	CCCATCAC others(140): Show CCCATCACCATCATCACCATCACCACCATCACCATCATCACCATCACCAC CATCACCATCATCACCATCACCACCACCATCACCATCATCATCATCACCA CCATCACCATCATCACCATCACCCCCATCACCATCATCACCATCACCA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(82): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00423.hp2 HG00639.hp2 HG00642.hp1 HG00735.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01517.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02129.hp2 HG02132.hp2 HG02155.hp2 HG02280.hp2 HG02523.hp1 HG02523.hp2 HG02698.hp1 HG02738.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18957.hp2 NA18964.hp2 NA18969.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp2 NA18982.hp2 NA18983.hp2 NA18990.hp2 NA18993.hp2 NA19003.hp2 NA19007.hp1 NA19011.hp1 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19062.hp2 NA19066.hp2 NA19070.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0009 a0001c0013 a0001c0016 a0002c0002 a0003c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0018 a0001c0001t0020 a0001c0001t0024 a0001c0003t0001 a0001c0003t0003 a0001c0003t0008 a0001c0004t0003 a0001c0004t0031 a0001c0009t0002 a0001c0013t0002 a0001c0016t0002 a0002c0002t0001 a0002c0002t0002 a0003c0011t0002	a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0151 others(82): Show a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0205 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0240 a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0020 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0038 a0001c0001t0002g0046 a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0087 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0104 a0001c0001t0002g0110 a0001c0001t0002g0112 a0001c0001t0002g0115 a0001c0001t0003g0261 a0001c0001t0003g0280 a0001c0001t0003g0289 a0001c0001t0007g0035 a0001c0001t0007g0107 a0001c0001t0008g0118 a0001c0001t0012g0004 a0001c0001t0012g0005 a0001c0001t0018g0006 a0001c0001t0020g0057 a0001c0001t0024g0194 a0001c0003t0001g0225 a0001c0003t0003g0294 a0001c0003t0008g0119 a0001c0004t0003g0279 a0001c0004t0031g0299 a0001c0009t0002g0086 a0001c0009t0002g0091 a0001c0013t0002g0111 a0001c0016t0002g0066 a0002c0002t0001g0152 a0002c0002t0001g0178 a0002c0002t0001g0237 a0002c0002t0002g0045 a0002c0002t0002g0070 a0002c0002t0002g0081 a0002c0002t0002g0082 a0003c0011t0002g0017	85	303	0.2805	-147	c.755 others(17): Show c.755-8827_755-8681del		FAM171A1	ENSG00000148468.17	transcript	ENST00000378116.9	protein_coding	5/7						chr10	TogoVar
FOXD4L1_chr2_113493665_113506150	113496512	CTTTCCGT others(140): Show CTTTCCGTTATCTCCTGTTCCCGCCTTTGACATGCCCCCATCAATGTGGG TTTCCGTTATCTCCTGTTCCCGCCTTTGACATGCCCCCATCAATGTGGGT TTCCGTTATCTCCTGTTCCCGCCTTTGACATGCCCCCATCAATGTGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0000 a0000	a0000c0017 a0000c0017	a0000c0017t0013 a0000c0017t0013	a0000c0017t0013g0000 a0000c0017t0013g0000	1	326	0.0031	-147	c.-27 others(11): Show c.-2744_-2598del		FOXD4L1	ENSG00000184492.7	transcript	ENST00000306507.7	protein_coding					2152		chr2	TogoVar
FOXN3_chr14_89151177_89422233	89360817	CCACCACC others(140): Show CCACCACCTCCACCACTACCACCTCCAGCACCACCTCCACCACCACCTCC ACCACCACCTCCACCACCACCTCCACCACCACCACCTCCACCACCACCAC CTCCAGCACCACCTCCACCACCACCACCTCCACCACCACCACCTCCAG	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0173 a0001c0001t0014g0173	1	230	0.0044	-147	c.544 others(19): Show c.544-10156_544-10010del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FOXN3_chr14_89151177_89422233	89361664	GCACCACC others(140): Show GCACCACCTCCACCACCACCTCCACCACCACCTCCACCACTACCACCTCC AGCACTACCTCCACCACCACCACCTCCACCACCACCTCCACCACCACCTC CACCACCACCACCTCCAGCACCACCACCTCCACCACCACCACCTCCAC	G G	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG01934.hp1 HG03654.hp1 HG01346.hp1 HG01934.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0018 a0001c0001t0005 a0001c0001t0018	a0001c0001t0005g0195 a0001c0001t0005g0213 a0001c0001t0018g0158 a0001c0001t0005g0195 a0001c0001t0005g0213 a0001c0001t0018g0158	3	230	0.0130	-147	c.544 others(19): Show c.544-11003_544-10857del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
FUT8_chr14_65407730_65749121	65692324	ACCTCCCA others(140): Show ACCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA18906.hp1 HG01192.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0230 a0001c0001t0005g0256 a0001c0001t0005g0230 a0001c0001t0005g0256	2	374	0.0054	-147	c.835 others(19): Show c.835+22889_835+23035del		FUT8	ENSG00000033170.17	transcript	ENST00000673929.1	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr14	TogoVar
GINS3_chr16_58387471_58411147	58396514	GGGCTGAC others(140): Show GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGTCGGGCGGGG GCTGATCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCTGATCCCCCCACCTCCCTTCCCGGACGGGGCGGCTGGCCGGGCGGT	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18979.hp1 NA19082.hp1 HG00673.hp1 NA18979.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0136 a0001c0001t0001g0038 a0001c0001t0001g0136	3	434	0.0069	-147	c.186 others(17): Show c.186+3730_186+3876del		GINS3	ENSG00000181938.14	transcript	ENST00000318129.6	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr16	TogoVar
GNG8_chr19_46628953_46641202	46635594	GAGGAGAT others(140): Show GAGGAGATGGACGGATGGGGTGGGAGAGGATGGGGAGATGGAGGGAGGGG GTGTGGGGTGGGAGAGGATGGGGAGATGGAGGGAGGGGGTGTGGGGTGGG AGAGGATGGGGAGATGGAGGGAGGGGGTGTGGGGTGGGAGAGGATGGA	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01891.hp2 HG02965.hp2 HG01099.hp1 HG01891.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0048 a0001c0001t0002g0078 a0001c0002t0001g0079 a0001c0001t0001g0048 a0001c0001t0002g0078 a0001c0002t0001g0079	3	438	0.0069	-147	c.-44 others(15): Show c.-44+406_-44+552del		GNG8	ENSG00000167414.5	transcript	ENST00000693335.1	protein_coding	1/2						chr19	TogoVar
GOLGA1_chr9_124873275_124946083	124895268	ATCCACAA others(140): Show ATCCACAACAGAGAACCCTCCACAACAGAGAACCCTCCACAACAGAGAAC CATCCACAACAGAGACTCTCCACAACAGAGAACCCTCCACAACAGACTCT CCACAACAGAGAACCCTCCACAACAGAGACTCTCCACAACAGAGACGC	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01123.hp1 HG01255.hp2 others(16): Show HG00621.hp1 HG01123.hp1 HG01255.hp2 HG01257.hp2 HG01361.hp2 HG01496.hp2 HG01993.hp2 HG02027.hp1 HG02074.hp2 HG02129.hp2 NA18940.hp1 NA18949.hp1 NA18964.hp1 NA18965.hp2 NA18966.hp2 NA19002.hp2 NA19007.hp2 NA19087.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0017 a0001c0001t0004 a0001c0001t0017	a0001c0001t0004g0003 a0001c0001t0004g0021 a0001c0001t0004g0022 others(12): Show a0001c0001t0004g0003 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0232 a0001c0001t0004g0233 a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0238 a0001c0001t0004g0239 a0001c0001t0004g0241 a0001c0001t0004g0242 a0001c0001t0004g0243 a0001c0001t0017g0240	19	374	0.0508	-147	c.140 others(19): Show c.1407+3134_1407+3280del		GOLGA1	ENSG00000136935.14	transcript	ENST00000373555.9	protein_coding	15/22						chr9	TogoVar
GOLGA6L10_chr15_82334993_82354475	82344963	TAGCCTCT others(140): Show TAGCCTCTCCTCCTGTTCACACAGCCTCTCCTCCTGTTCACATAGCCTCT CCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGT TCACACAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00639.hp2 HG00735.hp1 HG01361.hp2 others(2): Show HG00639.hp2 HG00735.hp1 HG01361.hp2 HG03490.hp2 HG03492.hp2	a0010 a0010	a0010c0013 a0010c0022 a0010c0013 a0010c0022	a0010c0013t0009 a0010c0022t0009 a0010c0013t0009 a0010c0022t0009	a0010c0013t0009g0015 a0010c0022t0009g0030 a0010c0013t0009g0015 a0010c0022t0009g0030	5	301	0.0166	-147	c.750 others(7): Show c.750_896del	p.Cys others(13): Show p.Cys251_Leu299del	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	996/4452	750/1569	250/522			chr15	TogoVar
GOLGA6L22_chr15_22453903_22474226	22466394	TGGGAGCA others(140): Show TGGGAGCAGGAAGAGAAGATGCAAGAACAGGAGGAGAAGATGCGGAGGCA GGAGGAGAAGATAAGGGAGCAGGAGAAGAAGATACGGGAGCAGGAGGAGA AGATACGAGAGCAGGAGGAGATGATGCAGGAACAGGAAGAGAAGATGG	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00738.hp2 HG03834.hp2 NA18947.hp2 others(4): Show HG00738.hp2 HG03834.hp2 NA18947.hp2 NA18966.hp2 NA18969.hp1 NA19004.hp1 NA19090.hp2	a0013 a0021 a0027 others(3): Show a0013 a0021 a0027 a0030 a0038 a0044	a0013c0017 a0021c0037 a0027c0032 others(3): Show a0013c0017 a0021c0037 a0027c0032 a0030c0049 a0038c0042 a0044c0059	a0013c0017t0001 a0021c0037t0001 a0027c0032t0002 others(3): Show a0013c0017t0001 a0021c0037t0001 a0027c0032t0002 a0030c0049t0001 a0038c0042t0002 a0044c0059t0001	a0013c0017t0001g0001 a0013c0017t0001g0045 a0021c0037t0001g0009 others(4): Show a0013c0017t0001g0001 a0013c0017t0001g0045 a0021c0037t0001g0009 a0027c0032t0002g0007 a0030c0049t0001g0014 a0038c0042t0002g0001 a0044c0059t0001g0001	7	226	0.0310	-147	c.228 others(9): Show c.2281_2427del	p.Gly others(13): Show p.Gly761_Met809del	GOLGA6L22	ENSG00000277865.6	transcript	ENST00000622895.2	protein_coding	8/9	2372/4401	2281/2565	761/854		INFO_REALIGN_3_PRIME	chr15	TogoVar
GOLGA6L22_chr15_22453903_22474226	22466541	GGGGAGCA others(140): Show GGGGAGCAGGAAGAGAAGATGCAAGAACAGGAGGAGAAGATGCGGAGGCA GGAGGAGAAGATAAGGGAGCAGGAGAAGAAGATACGGGAGCAGGAGGAGA AGATACGAGAGCAGGAGGAGATGATGCAGGAACAGGAAGAGAAGATGT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00673.hp2 HG02027.hp1 HG02040.hp1 others(9): Show HG00673.hp2 HG02027.hp1 HG02040.hp1 NA18944.hp1 NA18966.hp1 NA18969.hp2 NA19007.hp1 NA19012.hp1 NA19072.hp1 NA19080.hp1 NA19088.hp1 NA19090.hp1	a0000 a0000	a0000c0008 a0000c0013 a0000c0024 others(1): Show a0000c0008 a0000c0013 a0000c0024 a0000c0058	a0000c0008t0001 a0000c0013t0001 a0000c0024t0001 others(1): Show a0000c0008t0001 a0000c0013t0001 a0000c0024t0001 a0000c0058t0001	a0000c0008t0001g0002 a0000c0008t0001g0012 a0000c0008t0001g0018 others(5): Show a0000c0008t0001g0002 a0000c0008t0001g0012 a0000c0008t0001g0018 a0000c0013t0001g0002 a0000c0013t0001g0034 a0000c0024t0001g0002 a0000c0024t0001g0038 a0000c0058t0001g0002	12	226	0.0531	-147	c.229 others(9): Show c.2292_2438del	p.Glu others(13): Show p.Glu765_Glu813del	GOLGA6L22	ENSG00000277865.6	transcript	ENST00000622895.2	protein_coding	8/9	2383/4401	2292/2565	764/854		INFO_REALIGN_3_PRIME	chr15	TogoVar
GOLGA6L7_chr15_28836832_28853644	28842975	GCATCTGC others(140): Show GCATCTGCTCCTCCTGCTCCCCTATCTGCTCCTCCTGCTTCCACATCTGC TCCTCCTGCTTCCGCATCTGCTCCTTCTGCTTCAGCATCTGCTTCTCCTG CTTCCGCATCTGCTCCTCCTGCTCCCCCATCTGCTCCTCCTGCTTCCC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02145.hp1 HG02145.hp2 HG02257.hp2 others(5): Show HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02559.hp1 HG02572.hp1 HG02976.hp2 HG03130.hp1 HG06807.hp2	a0008 a0018 a0038 others(1): Show a0008 a0018 a0038 a0052	a0008c0011 a0018c0017 a0038c0034 others(1): Show a0008c0011 a0018c0017 a0038c0034 a0052c0044	a0008c0011t0002 a0018c0017t0002 a0038c0034t0002 others(1): Show a0008c0011t0002 a0018c0017t0002 a0038c0034t0002 a0052c0044t0012	a0008c0011t0002g0018 a0018c0017t0002g0054 a0018c0017t0002g0080 others(2): Show a0008c0011t0002g0018 a0018c0017t0002g0054 a0018c0017t0002g0080 a0038c0034t0002g0099 a0052c0044t0012g0048	8	422	0.0190	-147	c.982 others(8): Show c.982_1128del	p.Gly others(13): Show p.Gly328_Met376del	GOLGA6L7	ENSG00000261649.7	transcript	ENST00000567390.7	protein_coding	9/9	1223/2367	982/1869	328/622			chr15	TogoVar
GPR89B_chr1_147923420_147998592	147949929	CCCCCCCA others(140): Show CCCCCCCACCTCCCTCCCGGACGGTGCGGCTGGCCGGGTGTGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC TCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTGAT	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	274	0.0037	-147	c.416 others(17): Show c.416-3392_416-3246del		GPR89B	ENSG00000188092.15	transcript	ENST00000314163.12	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
GRAMD4_chr22_46615386_46684785	46631389	ACTCCTGG others(140): Show ACTCCTGGGGACCGGGGATGGGTAGAACCTCACAGCCTGTGTCCTTTCGT CTCCTGGGGACCGGGGATGGGTAGAACCTCACGGCCTGTGTCCTTTCGTC TCCTGGGGACCGGGGATGGGTAGAACCTCACGGCCTGTGTCCTTTCGT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01891.hp2 HG02451.hp1 others(8): Show HG01109.hp1 HG01891.hp2 HG02451.hp1 HG02622.hp1 HG02647.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0028 a0001c0001t0030 a0001c0002t0004 a0001c0001t0028 a0001c0001t0030 a0001c0002t0004	a0001c0001t0028g0060 a0001c0001t0030g0044 a0001c0002t0004g0032 others(8): Show a0001c0001t0028g0060 a0001c0001t0030g0044 a0001c0002t0004g0032 a0001c0002t0004g0069 a0001c0002t0004g0091 a0001c0002t0004g0092 a0001c0002t0004g0093 a0001c0002t0004g0094 a0001c0002t0004g0095 a0001c0002t0004g0096 a0001c0002t0004g0097	11	328	0.0335	-147	c.162 others(17): Show c.162+4461_162+4607del		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
GRAMD4_chr22_46615386_46684785	46631422	AGCCTGTG others(140): Show AGCCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACG GCCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACGG CCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02976.hp2 NA19240.hp1 HG02622.hp2 HG02976.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0033 a0001c0001t0004 a0001c0001t0010 a0001c0001t0033	a0001c0001t0004g0036 a0001c0001t0010g0034 a0001c0001t0033g0037 a0001c0001t0004g0036 a0001c0001t0010g0034 a0001c0001t0033g0037	3	328	0.0092	-147	c.162 others(17): Show c.162+4895_162+5041del		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
GRTP1_chr13_113319163_113369130	113346731	AGCGGACC others(140): Show AGCGGACCCGGGAGGACCTCTGTGGCTGAGAGCGGACCTGGGAGGACCTC TGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGACAAGAGCAGACCCG GGAGGACCTCTGTGGACAAGAGCAGACCCGGGAGGACCTCTGTGCCTG	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01346.hp1 HG01358.hp1 others(1): Show HG01261.hp2 HG01346.hp1 HG01358.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 others(1): Show a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0233	4	288	0.0139	-147	c.466 others(17): Show c.466-1919_466-1773del		GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7						chr13	TogoVar
H1-7_chr12_48323980_48335279	48333070	CGGGGCGG others(140): Show CGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAC GGCACGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATG GCACGGCTGGCCGGGCGGGGGGGCTGACCCCCCACCTCCCTCCCGGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp2 NA19067.hp1 NA18942.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	424	0.0047	-147	c.30 others(11): Show c.3012_*3158del		H1-7	ENSG00000187166.1	transcript	ENST00000335017.1	protein_coding					2792		chr12	TogoVar
HDAC4_chr2_239043168_239406020	239068848	ACACTTGC others(140): Show ACACTTGCTTGGTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTG CACTTGCTTGGTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTGC ACTTGCTTGGTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00558.hp1 others(61): Show HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00735.hp2 HG01081.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01346.hp2 HG01433.hp2 HG01515.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp2 HG02109.hp1 HG02132.hp2 HG02145.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02615.hp1 HG02647.hp1 HG02809.hp1 HG02895.hp1 HG02896.hp1 HG02922.hp2 HG02976.hp2 HG03453.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG03669.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp1 HG04184.hp2 HG04204.hp1 NA18612.hp1 NA18747.hp2 NA18950.hp1 NA18954.hp1 NA18954.hp2 NA18961.hp1 NA18977.hp2 NA18990.hp2 NA18993.hp1 NA18998.hp2 NA19030.hp1 NA19056.hp1 NA19068.hp2 NA19079.hp1 NA20300.hp1 NA21309.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0007	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0008 a0001c0015 a0001c0023 a0001c0028 a0001c0035 a0002c0017 a0004c0014 a0005c0034 a0007c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(31): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0001c0001t0014 a0001c0001t0017 a0001c0001t0033 a0001c0001t0049 a0001c0001t0052 a0001c0002t0001 a0001c0002t0023 a0001c0003t0001 a0001c0003t0002 a0001c0003t0008 a0001c0003t0017 a0001c0005t0001 a0001c0005t0007 a0001c0005t0064 a0001c0006t0002 a0001c0006t0011 a0001c0006t0048 a0001c0008t0001 a0001c0008t0023 a0001c0015t0047 a0001c0023t0001 a0001c0028t0013 a0001c0035t0067 a0002c0017t0013 a0004c0014t0002 a0005c0034t0029 a0007c0031t0001	a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0146 others(61): Show a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0146 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0198 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0002g0112 a0001c0001t0002g0160 a0001c0001t0002g0217 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0236 a0001c0001t0003g0087 a0001c0001t0004g0182 a0001c0001t0004g0186 a0001c0001t0004g0232 a0001c0001t0006g0116 a0001c0001t0006g0218 a0001c0001t0010g0125 a0001c0001t0013g0109 a0001c0001t0014g0159 a0001c0001t0014g0190 a0001c0001t0017g0027 a0001c0001t0033g0152 a0001c0001t0049g0235 a0001c0001t0052g0073 a0001c0002t0001g0012 a0001c0002t0001g0110 a0001c0002t0001g0172 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0187 a0001c0002t0023g0192 a0001c0003t0001g0023 a0001c0003t0002g0144 a0001c0003t0008g0168 a0001c0003t0017g0001 a0001c0005t0001g0010 a0001c0005t0001g0021 a0001c0005t0001g0079 a0001c0005t0001g0080 a0001c0005t0001g0128 a0001c0005t0007g0032 a0001c0005t0007g0078 a0001c0005t0064g0039 a0001c0006t0002g0063 a0001c0006t0002g0191 a0001c0006t0002g0195 a0001c0006t0011g0158 a0001c0006t0048g0060 a0001c0008t0001g0188 a0001c0008t0001g0221 a0001c0008t0023g0203 a0001c0015t0047g0037 a0001c0023t0001g0047 a0001c0028t0013g0216 a0001c0035t0067g0043 a0002c0017t0013g0220 a0004c0014t0002g0101 a0004c0014t0002g0102 a0005c0034t0029g0095 a0007c0031t0001g0098	64	242	0.2645	-147	c.275 others(17): Show c.2751-388_2751-242del		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	22/26						chr2	TogoVar
HMCN2_chr9_130260760_130439123	130277847	CCACCACC others(140): Show CCACCACCACCACCATCATCATCATCACCACCACCATCATCATCACCACC ACCATCATCATCACCACCACCACCATCATCATCATCACCACCACCATCAT CATCATCACCACCACCACCACCATCATCATCACCACCACCACGATCAT	C C	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0201 a0002c0201	a0002c0201t0002 a0002c0201t0002	a0002c0201t0002g0165 a0002c0201t0002g0165	1	258	0.0039	-147	c.260 others(17): Show c.260-6732_260-6586del		HMCN2	ENSG00000148357.18	transcript	ENST00000683500.2	protein_coding	1/97					INFO_REALIGN_3_PRIME	chr9	TogoVar
HSD17B14_chr19_48808018_48841491	48834483	GGGGCTGA others(140): Show GGGGCTGAGGTCTGGACTCCTGGGTCTGAGGAAGTAGGGCCTGGGGGCCT GGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTC CGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0382 a0001c0001t0001g0382	1	394	0.0025	-147	c.128 others(15): Show c.128-272_128-126del		HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8						chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48834512	GGAAGTAG others(140): Show GGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCT GGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGGCCTGGACT CCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGGGTCCGA	G G	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0302 a0002c0002t0001g0302	1	394	0.0025	-147	c.128 others(15): Show c.128-301_128-155del		HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8						chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48834750	AGCCTGGA others(140): Show AGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCCTGGACTCCT GGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAG GAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02630.hp1 HG00140.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0223 a0001c0001t0001g0224	2	394	0.0051	-147	c.128 others(15): Show c.128-539_128-393del		HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8						chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48834778	GGGGCTGG others(140): Show GGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCC TGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTC CGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAA	G G	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00738.hp2 HG04199.hp1 HG00733.hp2 HG00738.hp2 HG04199.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0010 a0001c0001 a0008c0010	a0001c0001t0001 a0008c0010t0001 a0001c0001t0001 a0008c0010t0001	a0001c0001t0001g0058 a0001c0001t0001g0059 a0008c0010t0001g0060 a0001c0001t0001g0058 a0001c0001t0001g0059 a0008c0010t0001g0060	3	394	0.0076	-147	c.128 others(15): Show c.128-567_128-421del		HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8						chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48834927	GGCTGGGA others(140): Show GGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTG GACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCG AGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGT	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	394	0.0025	-147	c.128 others(15): Show c.128-716_128-570del		HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8						chr19	TogoVar
IGLON5_chr19_51306644_51335891	51311052	GTCTGAGG others(140): Show GTCTGAGGGAGGAGGGGCTGGGGGCCTGGGCTCCAGGGTCTGAGGGAGGA GGGGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCC TGGGCTCCAGGGTCTGAGAGAGGAGGGGCTGGGCCTGGACTCCTGGGT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02615.hp2 HG02886.hp1 others(6): Show HG02258.hp1 HG02615.hp2 HG02886.hp1 HG02895.hp1 HG03471.hp1 HG03486.hp1 HG03540.hp1 NA18522.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0017 a0001c0001t0018 a0001c0001t0008 a0001c0001t0017 a0001c0001t0018	a0001c0001t0008g0026 a0001c0001t0008g0068 a0001c0001t0008g0070 others(6): Show a0001c0001t0008g0026 a0001c0001t0008g0068 a0001c0001t0008g0070 a0001c0001t0008g0071 a0001c0001t0008g0072 a0001c0001t0017g0026 a0001c0001t0017g0069 a0001c0001t0018g0309 a0001c0001t0018g0310	9	418	0.0215	-147	c.-79 others(9): Show c.-795_-649del		IGLON5	ENSG00000142549.10	transcript	ENST00000270642.9	protein_coding					591		chr19	TogoVar
INSIG2_chr2_118083471_118115997	118092811	TGATGAGG others(140): Show TGATGAGGAGGAGAGTTCTGTAGCTACTGAACCTTGCTAAAAGCAACCAG ATGATGATGATGATGATGATGATGAGGACGAGGAGAGTTCTGTAGCTACT GAACCTTGCTAAAAGCAACCAGATTATGATGATGATGAGGAGGAGGAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00738.hp1 others(9): Show HG00099.hp2 HG00140.hp2 HG00738.hp1 HG01192.hp1 HG01243.hp2 HG01346.hp2 HG01515.hp1 HG01891.hp1 HG02896.hp1 HG02897.hp1 HG03540.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0013	a0001c0001t0003g0036 a0001c0001t0004g0036 a0001c0001t0004g0101 others(5): Show a0001c0001t0003g0036 a0001c0001t0004g0036 a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0006g0106 a0001c0001t0013g0014	12	440	0.0273	-147	c.-13 others(19): Show c.-138-3605_-138-3459del		INSIG2	ENSG00000125629.16	transcript	ENST00000245787.9	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr2	TogoVar
IPO11_chr5_62407763_62633582	62598379	GCTTGCTT others(140): Show GCTTGCTTGCTTGCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	G G	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0268 a0001c0003t0001g0268	1	330	0.0030	-147	c.267 others(19): Show c.2679-3384_2679-3238del		IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	28/29						chr5	TogoVar
IRS2_chr13_109747695_109791583	109766537	GCATGTAG others(140): Show GCATGTAGATATCCCAGCCTCATCCACCTTGGCTCCAACTCCCCACCAAG CATGTAGATATCCCAGCCTCATCCACCCTGGCTCCGACTCCCCACCAAGC ATGTAGATATCCCAGCCTCATCCACCCTGACTCCAACTCCCCACCAAA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01943.hp1 HG02630.hp1 HG01891.hp1 HG01943.hp1 HG02630.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0015 a0001c0004t0046 a0001c0004t0015 a0001c0004t0046	a0001c0004t0015g0249 a0001c0004t0015g0250 a0001c0004t0046g0251 a0001c0004t0015g0249 a0001c0004t0015g0250 a0001c0004t0046g0251	3	398	0.0075	-147	c.401 others(21): Show c.4013-10376_4013-10230del		IRS2	ENSG00000185950.9	transcript	ENST00000375856.5	protein_coding	1/1						chr13	TogoVar
ITIH2_chr10_7698316_7754520	7737825	CTATATTA others(140): Show CTATATTATATTCTATATATTATATATTATATTCTATATATTATATATTA TATTCTATATATTATATATTATATTCTATATATTATATATTATATTCTAT ATATTATATATTATATTCTATATATTATATATTATATTCTATATATTA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01884.hp1 HG02486.hp1 others(2): Show HG00323.hp2 HG01884.hp1 HG02486.hp1 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(2): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0002t0001g0160 a0001c0002t0001g0161	5	380	0.0132	-147	c.195 others(17): Show c.1958-569_1958-423del		ITIH2	ENSG00000151655.19	transcript	ENST00000358415.9	protein_coding	15/20					INFO_REALIGN_3_PRIME	chr10	TogoVar
ITPR2_chr12_26330352_26838194	26785576	CGGCCAGC others(140): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTGCCC AGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGTCCCCCGCCT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00642.hp1 others(55): Show HG00140.hp1 HG00323.hp1 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01106.hp1 HG01168.hp2 HG01256.hp1 HG01433.hp1 HG01496.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02109.hp2 HG02132.hp2 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02630.hp1 HG02630.hp2 HG02738.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp2 HG03017.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03492.hp2 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 NA18747.hp2 NA18906.hp2 NA18956.hp1 NA18960.hp1 NA18960.hp2 NA18964.hp1 NA18970.hp1 NA18970.hp2 NA18980.hp1 NA19056.hp2 NA19090.hp1 NA19090.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0007 a0008 a0011	a0001c0001 a0001c0002 a0001c0003 others(28): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0012 a0001c0016 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0035 a0001c0040 a0001c0042 a0001c0043 a0001c0045 a0001c0048 a0002c0009 a0002c0010 a0002c0017 a0002c0052 a0003c0041 a0003c0047 a0007c0050 a0008c0039 a0011c0067	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(47): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0001t0052 a0001c0002t0001 a0001c0002t0006 a0001c0002t0007 a0001c0002t0017 a0001c0002t0029 a0001c0003t0001 a0001c0003t0014 a0001c0003t0023 a0001c0003t0033 a0001c0004t0001 a0001c0004t0003 a0001c0004t0010 a0001c0004t0011 a0001c0004t0048 a0001c0005t0005 a0001c0005t0016 a0001c0005t0031 a0001c0006t0003 a0001c0007t0005 a0001c0008t0043 a0001c0011t0002 a0001c0012t0005 a0001c0012t0006 a0001c0012t0039 a0001c0016t0042 a0001c0018t0047 a0001c0019t0005 a0001c0019t0011 a0001c0020t0001 a0001c0021t0006 a0001c0022t0002 a0001c0035t0027 a0001c0040t0005 a0001c0042t0025 a0001c0043t0054 a0001c0045t0001 a0001c0048t0012 a0002c0009t0041 a0002c0010t0007 a0002c0017t0018 a0002c0052t0001 a0003c0041t0003 a0003c0047t0004 a0007c0050t0003 a0008c0039t0001 a0011c0067t0003	a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0040 others(55): Show a0001c0001t0001g0021 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0064 a0001c0001t0003g0065 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0010g0127 a0001c0001t0052g0134 a0001c0002t0001g0071 a0001c0002t0006g0015 a0001c0002t0007g0014 a0001c0002t0017g0070 a0001c0002t0029g0072 a0001c0003t0001g0037 a0001c0003t0001g0061 a0001c0003t0014g0038 a0001c0003t0014g0099 a0001c0003t0023g0135 a0001c0003t0033g0081 a0001c0004t0001g0018 a0001c0004t0003g0093 a0001c0004t0010g0118 a0001c0004t0011g0128 a0001c0004t0048g0115 a0001c0005t0005g0086 a0001c0005t0016g0025 a0001c0005t0031g0104 a0001c0006t0003g0048 a0001c0007t0005g0041 a0001c0008t0043g0111 a0001c0011t0002g0035 a0001c0012t0005g0023 a0001c0012t0006g0080 a0001c0012t0039g0079 a0001c0016t0042g0107 a0001c0018t0047g0112 a0001c0019t0005g0042 a0001c0019t0011g0119 a0001c0020t0001g0085 a0001c0021t0006g0033 a0001c0022t0002g0004 a0001c0035t0027g0026 a0001c0040t0005g0019 a0001c0042t0025g0001 a0001c0043t0054g0140 a0001c0045t0001g0098 a0001c0048t0012g0084 a0002c0009t0041g0110 a0002c0010t0007g0083 a0002c0017t0018g0108 a0002c0017t0018g0109 a0002c0052t0001g0073 a0003c0041t0003g0091 a0003c0047t0004g0076 a0007c0050t0003g0016 a0008c0039t0001g0022 a0011c0067t0003g0007	58	142	0.4085	-147	c.163 others(17): Show c.163+4434_163+4580del		ITPR2	ENSG00000123104.12	transcript	ENST00000381340.8	protein_coding	2/56						chr12	TogoVar
JPH3_chr16_87597508_87703156	87614709	TCTGGTCC others(140): Show TCTGGTCCCTGCACACACGAGGAGCCGCGCGTCCCCTCCCGGGATAAACG CTGGTCCCTGCACACACGAGGAGCCGCGTGTCCTCTCCCAGGATAAACGC TGGTCCCTGCACACGTGAGGAGCTGTGCGTCCCTTCCCGGGATAAACG	T T	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0339 a0001c0003t0001g0339	1	380	0.0026	-147	c.382 others(19): Show c.382+11259_382+11405del		JPH3	ENSG00000154118.13	transcript	ENST00000284262.3	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr16	TogoVar
LCN1_chr9_135516440_135531540	135528073	ATGCCTCA others(140): Show ATGCCTCATGTCACAGACCTTGTGACCTCACAGGTGCGTCCTCCCCACTC TGCCTCATGTCACAGACCTTGTGACCTCACAGGTGCGTCCTCCCCACTAT GCCTCATGTCACAGACCTTGTGACCTCACAGGTGCGTCCTCCCCACTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01261.hp1 HG01515.hp2 others(17): Show HG01074.hp2 HG01261.hp1 HG01515.hp2 HG02055.hp1 HG02258.hp1 HG02280.hp1 HG02976.hp1 HG02976.hp2 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG06807.hp2 NA18957.hp1 NA18966.hp2 NA18975.hp1 NA18982.hp2 NA19043.hp1 NA19087.hp1 NA19240.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0009t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0009t0001 a0002c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0030 others(11): Show a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0059 a0001c0001t0001g0071 a0001c0001t0001g0084 a0001c0001t0003g0062 a0001c0009t0001g0093 a0002c0002t0001g0015 a0002c0002t0001g0033 a0002c0002t0001g0094 a0002c0002t0001g0096	20	436	0.0459	-147	c.17 others(11): Show c.1732_*1878del		LCN1	ENSG00000160349.10	transcript	ENST00000371781.4	protein_coding					1534		chr9	TogoVar
LHPP_chr10_124456823_124619141	124507131	TCGGGGGG others(140): Show TCGGGGGGTTAGAGAGGATTTCAGGTGGGAGGGTAGGCAGGATTTCAGGT CAGGGGGATAGACAGGATTTCAGGTGGGGGGATAGGGAAGATTTCAGGTG TGGAGGGTAGGCAGGATTTCAGGTCGGGGGGGTAGACAGGATTTCAGG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02300.hp1 HG02738.hp1 others(1): Show HG00642.hp1 HG02300.hp1 HG02738.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0024 a0001c0001t0001g0087 a0001c0001t0001g0174 others(1): Show a0001c0001t0001g0024 a0001c0001t0001g0087 a0001c0001t0001g0174 a0001c0001t0014g0096	4	260	0.0154	-147	c.624 others(17): Show c.624+9004_624+9150del		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6						chr10	TogoVar
LRRC58_chr3_120319509_120354354	120350013	CCGTTTTA others(140): Show CCGTTTTAATTGTAGAAGCACATACGTGGCTTTTGGTGTAAGTTGTGTCT AGGAGTGAATTTGGGAGATATGGAGGCGGTTGCATGATTTGAGATAGCTC AAATTAATGAGTTAGTTTAAAAACTCAAAGCATAGAGTTTGTACTGCA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0121 a0001c0001t0009g0121	1	376	0.0027	-147	c.-91 others(9): Show c.-917_-771del		LRRC58	ENSG00000163428.4	transcript	ENST00000295628.4	protein_coding					660		chr3	TogoVar
M1AP_chr2_74552883_74653330	74561091	AAGGAGAA others(140): Show AAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGA GAAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGG AGGAGGAGAAGGAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0155 a0001c0001t0006g0155	1	248	0.0040	-147	c.128 others(17): Show c.1282-947_1282-801del		M1AP	ENSG00000159374.18	transcript	ENST00000421985.2	protein_coding	8/10						chr2	TogoVar
MAP2K1_chr15_66381912_66496544	66414198	GAGTCAGG others(140): Show GAGTCAGGCAGACCTCATAGGTTAAACACACAGTCCTCTGTAAGACTGCC CTTCATAAGACTGTTACAATCTAAGGGGTTTCCTGACCACACACACTTCT GTTGAACTAGCTACAAATTGGGGTTTTCACTATCCTCTCAGGTTCCAT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00738.hp2 HG01099.hp2 others(37): Show HG00423.hp1 HG00738.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp2 HG01433.hp1 HG01496.hp1 HG02004.hp2 HG02055.hp1 HG02071.hp2 HG02809.hp2 HG03579.hp1 HG03669.hp2 HG03927.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp1 NA18941.hp1 NA18944.hp1 NA18946.hp1 NA18959.hp2 NA18967.hp2 NA18969.hp1 NA18977.hp2 NA18979.hp1 NA18983.hp2 NA18994.hp2 NA18995.hp2 NA18998.hp2 NA19006.hp1 NA19009.hp2 NA19012.hp2 NA19054.hp2 NA19067.hp2 NA19086.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 others(37): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0004g0016 a0001c0001t0004g0017 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0020 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0037 a0001c0001t0004g0038 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0045 a0001c0001t0004g0046 a0001c0001t0004g0147	40	372	0.1075	-147	c.81- others(17): Show c.81-20825_81-20679del		MAP2K1	ENSG00000169032.11	transcript	ENST00000307102.10	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr15	TogoVar
MCUB_chr4_109555246_109693719	109597335	AGACGGGG others(140): Show AGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGG ACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCG	A A	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18970.hp1 NA19058.hp1 others(1): Show NA18964.hp1 NA18970.hp1 NA19058.hp1 NA19079.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0005 a0001c0006t0005	a0001c0006t0005g0002 a0001c0006t0005g0128 a0001c0006t0005g0136 a0001c0006t0005g0002 a0001c0006t0005g0128 a0001c0006t0005g0136	4	336	0.0119	-147	c.99+ others(17): Show c.99+36969_99+37115del		MCUB	ENSG00000005059.16	transcript	ENST00000394650.7	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr4	TogoVar
MELK_chr9_36567895_36682682	36615300	TCCCCCCA others(140): Show TCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGTCGGCACGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGCACGGCTGGCCAGGCGGGGGGCTGAC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA18980.hp1 NA19002.hp2 HG00609.hp1 NA18980.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0100 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0100	3	242	0.0124	-147	c.666 others(17): Show c.666+7662_666+7808del		MELK	ENSG00000165304.8	transcript	ENST00000298048.7	protein_coding	8/17					INFO_REALIGN_3_PRIME	chr9	TogoVar
METTL26_chr16_629430_641305	631733	CCCACCCC others(140): Show CCCACCCCTTCACTGCCTCTCCTTCCATCCTCTCCTCCCACCCTCTCCTC CCATCCACTCCTCCCATCCACTTCTTCCATCCTCTTCTCCCACCCCGTCA CTGCCTCTCCTTCCATCCTCTCCTATCCACTCCTCCCATCCACTTCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	404	0.0025	-147	c.27 others(11): Show c.2717_*2863del		METTL26	ENSG00000130731.16	transcript	ENST00000301686.13	protein_coding					2696		chr16	TogoVar
MYO1F_chr19_8515778_8582442	8543675	CTGGTGGT others(140): Show CTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGGTGGTGGT GCTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGCTGGTGG TGCTGGTGGTGCTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGGTGG	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02145.hp2 HG03041.hp1 HG01192.hp1 HG02145.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0004 a0001c0003t0003 a0001c0001t0004 a0001c0003t0003	a0001c0001t0004g0209 a0001c0003t0003g0272 a0001c0003t0003g0273 a0001c0001t0004g0209 a0001c0003t0003g0272 a0001c0003t0003g0273	3	342	0.0088	-147	c.152 others(17): Show c.1524+475_1524+621del		MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27						chr19	TogoVar
MYO1F_chr19_8515778_8582442	8543720	GTGGTGCT others(140): Show GTGGTGCTGGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGGTGGTGGTGCT GGTGGTGCTGGTGGTGCTGGTGGTGGTGGTGCTGGTGGTGCTGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCTGGTGGTGC	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03486.hp2 HG04204.hp1 others(2): Show HG02451.hp1 HG03486.hp2 HG04204.hp1 NA18522.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0002t0005 a0001c0001t0002 a0001c0001t0005 a0001c0002t0005	a0001c0001t0002g0099 a0001c0001t0005g0322 a0001c0002t0005g0114 others(2): Show a0001c0001t0002g0099 a0001c0001t0005g0322 a0001c0002t0005g0114 a0001c0002t0005g0118 a0001c0002t0005g0120	5	342	0.0146	-147	c.152 others(17): Show c.1524+430_1524+576del		MYO1F	ENSG00000142347.20	transcript	ENST00000644032.2	protein_coding	14/27						chr19	TogoVar
MYT1_chr20_64159452_64247253	64174648	CCTGTAGT others(140): Show CCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTCCTGTAGCATCTTTC CTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTA GTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTG	C C	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	223	0.0045	-147	c.-99 others(18): Show c.-99+9910_-99+10056del		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22						chr20	TogoVar
MYT1_chr20_64159452_64247253	64175324	GCTTCTCC others(140): Show GCTTCTCCTGTAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGCAGCATCTTTCCCTGTAGTTGTGTCCATTTCCCCTCCCTGGCT TCTCCTGTAGCATCTTTCCCTGTAGTTGTGTCCATTCCCCCTCCCTGA	G G	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG04204.hp2 HG02735.hp2 HG04204.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0023 a0001c0005t0003 a0001c0005t0023	a0001c0005t0003g0025 a0001c0005t0023g0026 a0001c0005t0003g0025 a0001c0005t0023g0026	2	223	0.0090	-147	c.-99 others(19): Show c.-99+10594_-99+10740del		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64175648	CCTGTAGT others(140): Show CCTGTAGTTGTGTCCATTCCCCCTCCCTGGCTTCTCCTGTAGCATCTTTC CTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGTAGCATCTTTCCTA GTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTGCAGCATCTTTCCCTG	C C	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0215 a0001c0001t0001g0215	1	223	0.0045	-147	c.-99 others(19): Show c.-99+10910_-99+11056del		MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22						chr20	TogoVar

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